Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.P112fs

SERPINC1

777 papers

RefSeq Summary

The protein encoded by this gene, antithrombin III, is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of...

Pfam Domains

Serpinaa 85–461UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

serpin family C member 1

HGNC Previous Symbol

AT3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000488.4
p.P112fs
c.334_335fs
Surrounding Variants
3 papers
NM_000488.4
p.P112L
c.335C>T
1 paper
NM_000488.4
p.L113L
c.337C>T
3 papers
NM_000488.4
p.P112R
c.335C>G
1 paper
NM_000488.4
p.L113Q
c.338T>A
10 papers
NM_000488.4
p.P112S
c.334C>T
5 papers
NM_000488.4
p.P112T
c.334C>A
1 paper
NM_000488.4
p.L113fs
c.337_338fs
2 papers
NM_000488.4
p.L113delFs
c.337_338delAG
4 papers
NM_000488.4
p.S114R
c.340A>C
1 paper
NM_000488.4
p.S111P
c.331T>C
1 paper
NM_000488.4
p.S111T
c.331T>A
6 papers
NM_000488.4
p.S114N
c.341G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."